A51-year-old woman with a 30-year history of recurrent epistaxis presented to the emergency department with a nosebleed. Her nosebleeds were initially mild but had gradually progressed in severity and frequency, and she had been admitted to hospital several times for cauterization. She also reported having very heavy menstrual periods in her 20s, for which she had had a hysterectomy at age 35. ...

BACKGROUND A disease severity score in hereditary hemorrhagic telangiectasia (HHT) would be a useful tool for assessing burden of disease and for designing clinical trials. Here, we propose the first known HHT severity score, the HHT-score. METHODS Demographics and disease characteristics were collected for the first 525 HHT patients recruited to the HHT Project of the Brain Vascular Malforma...

Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder with an estimated prevalence of 1 in 6,000, characterized by recurrent epistaxis, cutaneous telangiectasia, and arteriovenous malformations (AVMs) that affect many organs including the lungs, gastrointestinal tract, liver, and brain. Its diagnosis is based on the Curaçao criteria, and is considered d...

Sixty-four patients with symptomatic hereditary hemorrhagic telangiectasia were retrospectively studied in order to determine the true incidence of clinical manifestations in this disease. This select group had a significantly higher incidence of gastrointestinal hemorrhage and pulmonary arteriovenous fistula formation than has been previously reported. Data are presented regarding the course a...

J uvenile polyposis (JP or JPS for juvenile polyposis syndrome) is an autosomal dominant disorder that often presents in childhood. It is characterized by the presence of hamartomatous (juvenile) polyps that vary in number from fi ve to several hundred (1, 2). Th e polyps are found primarily in the colorectum, but they can be present throughout the gastrointestinal tract, from the stomach to th...

Endoglin (CD105), an accessory protein of the TGF-beta receptor superfamily, is highly expressed on endothelial cells. Hereditary hemorrhagic telangiectasia type 1 (HHT1) is associated with mutations in the Endoglin gene, leading to haploinsufficiency. To generate a disease model and ascertain the role of endoglin in development, we generated mice lacking 1 or both copies of the gene. Endoglin ...